ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3526G>T (p.Val1176Leu)

gnomAD frequency: 0.00024  dbSNP: rs200059929
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518444 SCV001727139 benign Zellweger spectrum disorders 2024-05-08 criteria provided, single submitter clinical testing

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